ClinVar Miner

List of variants in gene ACTN2 studied for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 396
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.351T>C (p.Ile117=) rs1341864 0.99334
NM_001103.4(ACTN2):c.378C>T (p.Asn126=) rs1341863 0.93032
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16345
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001103.4(ACTN2):c.705G>C (p.Val235=) rs2288599 0.00749
NM_001103.4(ACTN2):c.870G>A (p.Ala290=) rs116464082 0.00506
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001103.4(ACTN2):c.546T>C (p.Asp182=) rs34263845 0.00066
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001103.4(ACTN2):c.1519A>G (p.Met507Val) rs144553482 0.00048
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00026
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815 0.00021
NM_001103.4(ACTN2):c.1293G>A (p.Ser431=) rs144819985 0.00019
NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn) rs142646143 0.00018
NM_001103.4(ACTN2):c.186C>T (p.Ile62=) rs34403480 0.00016
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.1983C>T (p.Ala661=) rs372137571 0.00014
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005 0.00012
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507 0.00010
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=) rs191631773 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_001103.4(ACTN2):c.2540C>T (p.Ala847Val) rs370569935 0.00009
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050 0.00009
NM_001103.4(ACTN2):c.154C>T (p.Leu52=) rs199910162 0.00008
NM_001103.4(ACTN2):c.2541G>A (p.Ala847=) rs374278766 0.00008
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg) rs148628141 0.00007
NM_001103.4(ACTN2):c.899C>T (p.Thr300Met) rs144025957 0.00007
NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) rs146568303 0.00007
NM_001103.4(ACTN2):c.1288G>C (p.Glu430Gln) rs370865082 0.00006
NM_001103.4(ACTN2):c.1698C>T (p.Pro566=) rs148961019 0.00006
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384 0.00006
NM_001103.4(ACTN2):c.354C>T (p.Gly118=) rs539250948 0.00006
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr) rs370757762 0.00006
NM_001103.4(ACTN2):c.969C>T (p.Phe323=) rs200247458 0.00006
NM_001103.4(ACTN2):c.127-3C>A rs368775036 0.00005
NM_001103.4(ACTN2):c.1324C>T (p.Arg442Trp) rs769073315 0.00005
NM_001103.4(ACTN2):c.1476A>T (p.Arg492=) rs397516569 0.00005
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=) rs201179281 0.00005
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001103.4(ACTN2):c.1646A>T (p.Glu549Val) rs149794430 0.00004
NM_001103.4(ACTN2):c.1773C>G (p.Ile591Met) rs771302220 0.00004
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His) rs368040932 0.00004
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln) rs727505112 0.00004
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=) rs202135204 0.00004
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser) rs552938924 0.00004
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=) rs141884271 0.00004
NM_001103.4(ACTN2):c.2376C>T (p.Ala792=) rs369320952 0.00004
NM_001103.4(ACTN2):c.2412C>T (p.Asn804=) rs201700660 0.00004
NM_001103.4(ACTN2):c.2445C>T (p.Ile815=) rs397516575 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001103.4(ACTN2):c.2658C>T (p.Ser886=) rs143297401 0.00004
NM_001103.4(ACTN2):c.48G>A (p.Glu16=) rs397516580 0.00004
NM_001103.4(ACTN2):c.777G>A (p.Ala259=) rs764583678 0.00004
NM_001103.4(ACTN2):c.795G>A (p.Ala265=) rs757253639 0.00004
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
NM_001103.4(ACTN2):c.1107G>A (p.Ser369=) rs369218950 0.00003
NM_001103.4(ACTN2):c.1287C>T (p.Tyr429=) rs764881077 0.00003
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val) rs767291633 0.00003
NM_001103.4(ACTN2):c.1395G>A (p.Ala465=) rs750674913 0.00003
NM_001103.4(ACTN2):c.1445G>A (p.Arg482Gln) rs778023612 0.00003
NM_001103.4(ACTN2):c.1658G>C (p.Ser553Thr) rs778767257 0.00003
NM_001103.4(ACTN2):c.1671G>A (p.Ala557=) rs772691130 0.00003
NM_001103.4(ACTN2):c.18C>T (p.Pro6=) rs368367224 0.00003
NM_001103.4(ACTN2):c.1919G>A (p.Arg640His) rs772909106 0.00003
NM_001103.4(ACTN2):c.1972G>C (p.Glu658Gln) rs374135486 0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415 0.00003
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His) rs546431200 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.241+4G>A rs561826525 0.00003
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001103.4(ACTN2):c.2560C>T (p.Leu854=) rs370992948 0.00003
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211 0.00003
NM_001103.4(ACTN2):c.2668G>A (p.Gly890Arg) rs536297856 0.00003
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr) rs770368711 0.00003
NM_001103.4(ACTN2):c.541A>G (p.Lys181Glu) rs779350391 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001103.4(ACTN2):c.645C>T (p.Ala215=) rs781683654 0.00003
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln) rs774046373 0.00003
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356 0.00002
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001103.4(ACTN2):c.1108-3C>T rs372488913 0.00002
NM_001103.4(ACTN2):c.1155C>T (p.Tyr385=) rs532155333 0.00002
NM_001103.4(ACTN2):c.1172A>G (p.Asn391Ser) rs547711260 0.00002
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=) rs148223734 0.00002
NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu) rs200969588 0.00002
NM_001103.4(ACTN2):c.1708G>A (p.Gly570Arg) rs373132971 0.00002
NM_001103.4(ACTN2):c.1731C>T (p.Ala577=) rs750405065 0.00002
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp) rs397516571 0.00002
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411 0.00002
NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426 0.00002
NM_001103.4(ACTN2):c.2138C>T (p.Thr713Met) rs764538888 0.00002
NM_001103.4(ACTN2):c.2154+4C>T rs1342624709 0.00002
NM_001103.4(ACTN2):c.2154+5G>A rs767655336 0.00002
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met) rs765747662 0.00002
NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys) rs145450474 0.00002
NM_001103.4(ACTN2):c.2496C>T (p.Ile832=) rs189019392 0.00002
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=) rs727505177 0.00002
NM_001103.4(ACTN2):c.265C>T (p.Arg89Trp) rs369629689 0.00002
NM_001103.4(ACTN2):c.419G>A (p.Arg140His) rs370689695 0.00002
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr) rs776456711 0.00002
NM_001103.4(ACTN2):c.646A>G (p.Met216Val) rs749019847 0.00002
NM_001103.4(ACTN2):c.66G>A (p.Gln22=) rs761544833 0.00002
NM_001103.4(ACTN2):c.703G>A (p.Val235Met) rs754929573 0.00002
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile) rs771260546 0.00002
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser) rs1337069615 0.00002
NM_001103.4(ACTN2):c.771G>A (p.Ala257=) rs201545916 0.00002
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys) rs779109533 0.00002
NM_001103.4(ACTN2):c.920G>A (p.Arg307Gln) rs112882610 0.00002
NM_001103.4(ACTN2):c.979C>T (p.Arg327Cys) rs769485633 0.00002
NM_001103.4(ACTN2):c.1031A>G (p.Asn344Ser) rs886046206 0.00001
NM_001103.4(ACTN2):c.1058G>A (p.Arg353Gln) rs780552939 0.00001
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=) rs397516562 0.00001
NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys) rs572523462 0.00001
NM_001103.4(ACTN2):c.1228G>T (p.Ala410Ser) rs1258500915 0.00001
NM_001103.4(ACTN2):c.1236G>A (p.Thr412=) rs143566058 0.00001
NM_001103.4(ACTN2):c.1238A>T (p.His413Leu) rs763060410 0.00001
NM_001103.4(ACTN2):c.1284T>C (p.Asp428=) rs769334150 0.00001
NM_001103.4(ACTN2):c.1290G>A (p.Glu430=) rs765911535 0.00001
NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) rs563171274 0.00001
NM_001103.4(ACTN2):c.1323G>A (p.Leu441=) rs886039127 0.00001
NM_001103.4(ACTN2):c.1325G>A (p.Arg442Gln) rs776947613 0.00001
NM_001103.4(ACTN2):c.1332C>T (p.His444=) rs373709019 0.00001
NM_001103.4(ACTN2):c.1333G>A (p.Glu445Lys) rs773942709 0.00001
NM_001103.4(ACTN2):c.1338G>A (p.Ala446=) rs397516566 0.00001
NM_001103.4(ACTN2):c.1358C>G (p.Ala453Gly) rs566860712 0.00001
NM_001103.4(ACTN2):c.1359G>A (p.Ala453=) rs780174131 0.00001
NM_001103.4(ACTN2):c.1439A>G (p.Asn480Ser) rs1197619498 0.00001
NM_001103.4(ACTN2):c.1538C>A (p.Thr513Asn) rs749178520 0.00001
NM_001103.4(ACTN2):c.1549C>T (p.Leu517Phe) rs759778745 0.00001
NM_001103.4(ACTN2):c.1609G>A (p.Glu537Lys) rs1401807611 0.00001
NM_001103.4(ACTN2):c.1614T>C (p.Asp538=) rs368615266 0.00001
NM_001103.4(ACTN2):c.1624A>G (p.Met542Val) rs770807444 0.00001
NM_001103.4(ACTN2):c.166G>A (p.Gly56Ser) rs758034866 0.00001
NM_001103.4(ACTN2):c.1691C>T (p.Thr564Met) rs876661341 0.00001
NM_001103.4(ACTN2):c.1693C>T (p.Leu565=) rs546293678 0.00001
NM_001103.4(ACTN2):c.1703C>G (p.Ala568Gly) rs776805533 0.00001
NM_001103.4(ACTN2):c.1707C>T (p.Asp569=) rs773915011 0.00001
NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968 0.00001
NM_001103.4(ACTN2):c.1804G>A (p.Val602Ile) rs377356540 0.00001
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004 0.00001
NM_001103.4(ACTN2):c.1891C>T (p.Arg631Cys) rs1446087607 0.00001
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys) rs780431842 0.00001
NM_001103.4(ACTN2):c.1910G>A (p.Arg637His) rs1259556889 0.00001
NM_001103.4(ACTN2):c.1938C>T (p.Ala646=) rs958797222 0.00001
NM_001103.4(ACTN2):c.1946T>C (p.Ile649Thr) rs150825710 0.00001
NM_001103.4(ACTN2):c.1948G>C (p.Gly650Arg) rs1173244523 0.00001
NM_001103.4(ACTN2):c.1952C>T (p.Pro651Leu) rs752552408 0.00001
NM_001103.4(ACTN2):c.1975-5C>G rs369148572 0.00001
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250 0.00001
NM_001103.4(ACTN2):c.2082G>C (p.Lys694Asn) rs748034053 0.00001
NM_001103.4(ACTN2):c.2205C>A (p.Ile735=) rs757083123 0.00001
NM_001103.4(ACTN2):c.2232G>A (p.Thr744=) rs144676770 0.00001
NM_001103.4(ACTN2):c.2387G>A (p.Arg796His) rs772409484 0.00001
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg) rs769239899 0.00001
NM_001103.4(ACTN2):c.2424C>T (p.Thr808=) rs202204431 0.00001
NM_001103.4(ACTN2):c.2436A>G (p.Gln812=) rs146445537 0.00001
NM_001103.4(ACTN2):c.2449T>C (p.Phe817Leu) rs757713931 0.00001
NM_001103.4(ACTN2):c.2477A>T (p.Asp826Val) rs372348405 0.00001
NM_001103.4(ACTN2):c.2554C>T (p.Arg852Trp) rs745317077 0.00001
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) rs533267299 0.00001
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr) rs1270659015 0.00001
NM_001103.4(ACTN2):c.2661A>C (p.Ala887=) rs760091931 0.00001
NM_001103.4(ACTN2):c.2667C>T (p.Tyr889=) rs560852363 0.00001
NM_001103.4(ACTN2):c.2671G>T (p.Glu891Ter) rs1177830945 0.00001
NM_001103.4(ACTN2):c.537-4G>A rs1282585643 0.00001
NM_001103.4(ACTN2):c.570C>A (p.Ile190=) rs762515240 0.00001
NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln) rs200316891 0.00001
NM_001103.4(ACTN2):c.581G>A (p.Arg194Gln) rs528123945 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001103.4(ACTN2):c.731C>T (p.Ala244Val) rs938796645 0.00001
NM_001103.4(ACTN2):c.774C>T (p.Gly258=) rs776005605 0.00001
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val) rs566552494 0.00001
NM_001103.4(ACTN2):c.896G>A (p.Arg299His) rs746677039 0.00001
NM_001103.4(ACTN2):c.955A>G (p.Lys319Glu) rs754614411 0.00001
NM_001103.4(ACTN2):c.970C>T (p.Arg324Trp) rs747674727 0.00001
NM_001103.4(ACTN2):c.980G>A (p.Arg327His) rs554811924 0.00001
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp) rs770855273 0.00001
NM_001103.4(ACTN2):c.987G>A (p.Lys329=) rs1185341467 0.00001
NM_001103.4(ACTN2):c.1001A>G (p.Lys334Arg)
NM_001103.4(ACTN2):c.1017C>G (p.Cys339Trp)
NM_001103.4(ACTN2):c.102del (p.Ala35fs)
NM_001103.4(ACTN2):c.1056G>A (p.Leu352=) rs2102922642
NM_001103.4(ACTN2):c.1062C>T (p.Ile354=)
NM_001103.4(ACTN2):c.1089C>G (p.Ser363=)
NM_001103.4(ACTN2):c.1130G>A (p.Arg377Lys) rs1325419598
NM_001103.4(ACTN2):c.1149G>T (p.Lys383Asn)
NM_001103.4(ACTN2):c.1150G>T (p.Gly384Cys)
NM_001103.4(ACTN2):c.1156G>A (p.Glu386Lys)
NM_001103.4(ACTN2):c.1162T>G (p.Trp388Gly) rs376144003
NM_001103.4(ACTN2):c.1208C>A (p.Ala403Asp)
NM_001103.4(ACTN2):c.1212G>A (p.Glu404=)
NM_001103.4(ACTN2):c.1215G>A (p.Lys405=) rs1057522332
NM_001103.4(ACTN2):c.1237C>G (p.His413Asp)
NM_001103.4(ACTN2):c.1240G>A (p.Glu414Lys) rs1558243189
NM_001103.4(ACTN2):c.1242G>T (p.Glu414Asp) rs775057676
NM_001103.4(ACTN2):c.1245T>G (p.Thr415=)
NM_001103.4(ACTN2):c.1255+1G>C rs1367331045
NM_001103.4(ACTN2):c.1271T>C (p.Leu424Ser)
NM_001103.4(ACTN2):c.1272G>A (p.Leu424=) rs1060504998
NM_001103.4(ACTN2):c.1281G>T (p.Lys427Asn)
NM_001103.4(ACTN2):c.1296_1298delinsATT (p.Ser433Leu)
NM_001103.4(ACTN2):c.1298C>G (p.Ser433Trp)
NM_001103.4(ACTN2):c.1300C>G (p.Leu434Val)
NM_001103.4(ACTN2):c.1302G>T (p.Leu434=) rs2102929881
NM_001103.4(ACTN2):c.1311G>A (p.Val437=) rs886038902
NM_001103.4(ACTN2):c.1330C>G (p.His444Asp) rs1064796600
NM_001103.4(ACTN2):c.1335G>A (p.Glu445=)
NM_001103.4(ACTN2):c.1348G>A (p.Asp450Asn) rs774252565
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.4(ACTN2):c.1359G>C (p.Ala453=) rs780174131
NM_001103.4(ACTN2):c.1415A>G (p.Asp472Gly)
NM_001103.4(ACTN2):c.1416C>T (p.Asp472=)
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.1434T>C (p.Asn478=)
NM_001103.4(ACTN2):c.1444C>A (p.Arg482=)
NM_001103.4(ACTN2):c.1444C>G (p.Arg482Gly) rs199604590
NM_001103.4(ACTN2):c.1452G>C (p.Gln484His) rs200529923
NM_001103.4(ACTN2):c.1485G>C (p.Thr495=)
NM_001103.4(ACTN2):c.1494G>C (p.Gln498His) rs1413564541
NM_001103.4(ACTN2):c.1538C>T (p.Thr513Ile)
NM_001103.4(ACTN2):c.1603G>A (p.Ala535Thr)
NM_001103.4(ACTN2):c.1623T>C (p.Asp541=)
NM_001103.4(ACTN2):c.1625T>C (p.Met542Thr) rs778713804
NM_001103.4(ACTN2):c.1665C>G (p.Ile555Met)
NM_001103.4(ACTN2):c.1665C>T (p.Ile555=)
NM_001103.4(ACTN2):c.1703C>T (p.Ala568Val) rs776805533
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.4(ACTN2):c.1719G>A (p.Gln573=) rs763585604
NM_001103.4(ACTN2):c.1739A>G (p.Asn580Ser)
NM_001103.4(ACTN2):c.1740C>T (p.Asn580=) rs3738546
NM_001103.4(ACTN2):c.1753G>A (p.Val585Met)
NM_001103.4(ACTN2):c.175A>G (p.Ile59Val)
NM_001103.4(ACTN2):c.1769A>G (p.Asn590Ser)
NM_001103.4(ACTN2):c.1775G>T (p.Arg592Ile) rs774780856
NM_001103.4(ACTN2):c.1778T>C (p.Ile593Thr)
NM_001103.4(ACTN2):c.1780A>G (p.Ser594Gly) rs1572143496
NM_001103.4(ACTN2):c.1793C>T (p.Pro598Leu)
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=) rs137890030
NM_001103.4(ACTN2):c.1797C>T (p.Tyr599=) rs1553303873
NM_001103.4(ACTN2):c.1816G>C (p.Glu606Gln)
NM_001103.4(ACTN2):c.1818G>A (p.Glu606=)
NM_001103.4(ACTN2):c.1825A>C (p.Thr609Pro)
NM_001103.4(ACTN2):c.1832G>A (p.Trp611Ter)
NM_001103.4(ACTN2):c.1840-5G>A rs2102942477
NM_001103.4(ACTN2):c.1842G>C (p.Val614=)
NM_001103.4(ACTN2):c.1858A>G (p.Ile620Val) rs1659474887
NM_001103.4(ACTN2):c.1861C>T (p.Arg621Cys) rs756407851
NM_001103.4(ACTN2):c.1888G>A (p.Ala630Thr) rs1338074315
NM_001103.4(ACTN2):c.1890T>A (p.Ala630=)
NM_001103.4(ACTN2):c.1893C>A (p.Arg631=)
NM_001103.4(ACTN2):c.1898A>G (p.His633Arg)
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.1909C>A (p.Arg637Ser)
NM_001103.4(ACTN2):c.191A>G (p.Glu64Gly)
NM_001103.4(ACTN2):c.1923G>T (p.Gln641His)
NM_001103.4(ACTN2):c.1949G>T (p.Gly650Val)
NM_001103.4(ACTN2):c.1969A>T (p.Met657Leu)
NM_001103.4(ACTN2):c.1975-5C>T
NM_001103.4(ACTN2):c.1984C>G (p.Arg662Gly) rs150021739
NM_001103.4(ACTN2):c.1990T>A (p.Ser664Thr)
NM_001103.4(ACTN2):c.2001C>T (p.Ile667=)
NM_001103.4(ACTN2):c.2040G>A (p.Gln680=)
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile) rs576783493
NM_001103.4(ACTN2):c.2056A>G (p.Ile686Val)
NM_001103.4(ACTN2):c.2060A>C (p.Asn687Thr)
NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)
NM_001103.4(ACTN2):c.2061C>A (p.Asn687Lys)
NM_001103.4(ACTN2):c.2069ACA[1] (p.Asn691del) rs757747164
NM_001103.4(ACTN2):c.2070C>A (p.Asn690Lys)
NM_001103.4(ACTN2):c.2087A>G (p.Glu696Gly)
NM_001103.4(ACTN2):c.2106C>A (p.Ile702=)
NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr) rs1659517244
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.2168G>A (p.Gly723Glu)
NM_001103.4(ACTN2):c.2181G>T (p.Leu727=) rs878854173
NM_001103.4(ACTN2):c.2207A>T (p.Asn736Ile)
NM_001103.4(ACTN2):c.2211G>T (p.Glu737Asp)
NM_001103.4(ACTN2):c.2214G>A (p.Val738=)
NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter) rs2102947099
NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val) rs1060503686
NM_001103.4(ACTN2):c.2292C>T (p.His764=)
NM_001103.4(ACTN2):c.2295T>G (p.Phe765Leu)
NM_001103.4(ACTN2):c.22G>C (p.Val8Leu)
NM_001103.4(ACTN2):c.22G>T (p.Val8Leu)
NM_001103.4(ACTN2):c.231A>G (p.Glu77=)
NM_001103.4(ACTN2):c.2353A>G (p.Met785Val)
NM_001103.4(ACTN2):c.2368-1G>C
NM_001103.4(ACTN2):c.2395A>G (p.Thr799Ala)
NM_001103.4(ACTN2):c.2411A>G (p.Asn804Ser) rs776329264
NM_001103.4(ACTN2):c.241G>C (p.Gly81Arg)
NM_001103.4(ACTN2):c.242-4A>T
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.242G>A (p.Gly81Glu) rs1658299884
NM_001103.4(ACTN2):c.2452A>G (p.Met818Val)
NM_001103.4(ACTN2):c.2466G>A (p.Thr822=) rs746365850
NM_001103.4(ACTN2):c.2467G>T (p.Ala823Ser) rs2102951725
NM_001103.4(ACTN2):c.2470G>C (p.Asp824His)
NM_001103.4(ACTN2):c.2479A>G (p.Thr827Ala)
NM_001103.4(ACTN2):c.2484C>G (p.Ala828=)
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter) rs770335717
NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser)
NM_001103.4(ACTN2):c.2508G>A (p.Arg836=) rs2102951896
NM_001103.4(ACTN2):c.2527-3C>T
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser) rs1558232396
NM_001103.4(ACTN2):c.255C>G (p.Pro85=)
NM_001103.4(ACTN2):c.2572C>T (p.Gln858Ter)
NM_001103.4(ACTN2):c.2577C>G (p.Ala859=)
NM_001103.4(ACTN2):c.2587A>G (p.Ile863Val) rs397516577
NM_001103.4(ACTN2):c.2598G>T (p.Met866Ile)
NM_001103.4(ACTN2):c.2614C>G (p.Pro872Ala)
NM_001103.4(ACTN2):c.2614_2616delinsGAG (p.Pro872Glu)
NM_001103.4(ACTN2):c.2615C>A (p.Pro872Gln)
NM_001103.4(ACTN2):c.2616A>G (p.Pro872=) rs1572153472
NM_001103.4(ACTN2):c.2656T>C (p.Ser886Pro)
NM_001103.4(ACTN2):c.274A>C (p.Met92Leu)
NM_001103.4(ACTN2):c.285C>T (p.His95=)
NM_001103.4(ACTN2):c.303C>T (p.Asn101=)
NM_001103.4(ACTN2):c.31A>C (p.Asn11His) rs886046205
NM_001103.4(ACTN2):c.333G>A (p.Gly111=)
NM_001103.4(ACTN2):c.340C>T (p.Leu114=)
NM_001103.4(ACTN2):c.35A>G (p.Tyr12Cys)
NM_001103.4(ACTN2):c.361+5G>C rs1553300073
NM_001103.4(ACTN2):c.362-4G>A rs1014042332
NM_001103.4(ACTN2):c.368T>C (p.Val123Ala)
NM_001103.4(ACTN2):c.414C>T (p.Ile138=) rs1572114654
NM_001103.4(ACTN2):c.41A>G (p.Tyr14Cys)
NM_001103.4(ACTN2):c.423T>C (p.Phe141=)
NM_001103.4(ACTN2):c.432G>C (p.Gln144His)
NM_001103.4(ACTN2):c.439T>C (p.Ser147Pro) rs886038915
NM_001103.4(ACTN2):c.43G>A (p.Asp15Asn)
NM_001103.4(ACTN2):c.447A>C (p.Glu149Asp)
NM_001103.4(ACTN2):c.458C>T (p.Ala153Val)
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.4(ACTN2):c.510T>C (p.Asn170=) rs1572120135
NM_001103.4(ACTN2):c.518T>C (p.Ile173Thr)
NM_001103.4(ACTN2):c.528C>T (p.Phe176=) rs2102904360
NM_001103.4(ACTN2):c.549C>T (p.Gly183=) rs1060504997
NM_001103.4(ACTN2):c.556C>G (p.Leu186Val) rs371930065
NM_001103.4(ACTN2):c.565C>T (p.Leu189Phe)
NM_001103.4(ACTN2):c.570C>T (p.Ile190=) rs762515240
NM_001103.4(ACTN2):c.582G>T (p.Arg194=) rs767283256
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe) rs760937883
NM_001103.4(ACTN2):c.58A>G (p.Met20Val)
NM_001103.4(ACTN2):c.630A>G (p.Gly210=)
NM_001103.4(ACTN2):c.649G>A (p.Glu217Lys)
NM_001103.4(ACTN2):c.667C>T (p.Leu223=) rs778336485
NM_001103.4(ACTN2):c.674T>G (p.Ile225Ser) rs1553301462
NM_001103.4(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001103.4(ACTN2):c.697G>A (p.Asp233Asn) rs904672923
NM_001103.4(ACTN2):c.711C>G (p.Thr237=)
NM_001103.4(ACTN2):c.711C>T (p.Thr237=)
NM_001103.4(ACTN2):c.713C>G (p.Pro238Arg)
NM_001103.4(ACTN2):c.725A>G (p.Glu242Gly)
NM_001103.4(ACTN2):c.741G>T (p.Thr247=)
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr) rs1060503682
NM_001103.4(ACTN2):c.786C>T (p.Ala262=) rs201636760
NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys)
NM_001103.4(ACTN2):c.793G>A (p.Ala265Thr)
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.4(ACTN2):c.834G>A (p.Glu278=) rs1658904821
NM_001103.4(ACTN2):c.836A>C (p.Asn279Thr)
NM_001103.4(ACTN2):c.857A>G (p.Tyr286Cys)
NM_001103.4(ACTN2):c.879T>G (p.Leu293=)
NM_001103.4(ACTN2):c.894T>C (p.Arg298=) rs2102922372
NM_001103.4(ACTN2):c.905C>T (p.Pro302Leu)
NM_001103.4(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001103.4(ACTN2):c.919C>A (p.Arg307=) rs752782663
NM_001103.4(ACTN2):c.964G>A (p.Asp322Asn)
NM_001103.4(ACTN2):c.971G>C (p.Arg324Pro) rs1240148760
NM_001103.4(ACTN2):c.988C>G (p.His330Asp)

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